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    C1orf127 chromosome 1 open reading frame 127 [ Homo sapiens (human) ]

    Gene ID: 148345, updated on 2-Nov-2024

    Summary

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    Official Symbol
    C1orf127provided by HGNC
    Official Full Name
    chromosome 1 open reading frame 127provided by HGNC
    Primary source
    HGNC:HGNC:26730
    See related
    Ensembl:ENSG00000175262 MIM:619700; AllianceGenome:HGNC:26730
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to act upstream of or within determination of left/right symmetry and heart development. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in stomach (RPKM 1.3), pancreas (RPKM 0.6) and 15 other tissues See more
    Orthologs
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    Genomic context

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    See C1orf127 in Genome Data Viewer
    Location:
    1p36.22
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (10946475..10982076, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (10485794..10523301, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (11006532..11042133, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 24 Neighboring gene VISTA enhancer hs241 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10969040-10969771 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10969934-10970926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10972135-10972636 Neighboring gene uncharacterized LOC105376735 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10994223-10995188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10995189-10996154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10997150-10997734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 155 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 256 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11001673-11002238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11002239-11002802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11005721-11006524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11008047-11008548 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:11018518-11019287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11020057-11020826 Neighboring gene Sharpr-MPRA regulatory region 3012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 157 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 257 Neighboring gene cofilin 1 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 258 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11072454-11073421 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:11073783-11074029 Neighboring gene TAR DNA binding protein Neighboring gene MBL associated serine protease 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A Study on the Genetics of Primary Ciliary Dyskinesia. Alsamri MT, et al. J Clin Med, 2021 Oct 30. PMID 34768622, Free PMC Article
    2. Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. Li R, et al. PLoS Genet, 2012 May. PMID 22693459, Free PMC Article
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ37118, FLJ37833

    General protein information

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    Preferred Names
    uncharacterized protein C1orf127

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001170754.2 → NP_001164225.1  uncharacterized protein C1orf127 isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AL358492
      Consensus CDS
      CCDS53267.1
      UniProtKB/TrEMBL
      G8JLG8, H0YBK5
      Related
      ENSP00000366203.4, ENST00000377004.9
      Conserved Domains (1) summary
      pfam15094
      Location:151 → 365
      DUF4556; Domain of unknown function (DUF4556)

    2. NM_001366227.2 → NP_001353156.1  uncharacterized protein C1orf127 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL358492
      UniProtKB/TrEMBL
      B7ZLG7
      Conserved Domains (2) summary
      pfam15094
      Location:12 → 226
      DUF4556; Domain of unknown function (DUF4556)
      cl26464
      Location:330 → 633
      Atrophin-1; Atrophin-1 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      10946475..10982076 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047446828.1 → XP_047302784.1  uncharacterized protein C1orf127 isoform X1

    2. XM_047446830.1 → XP_047302786.1  uncharacterized protein C1orf127 isoform X2

    3. XM_047446831.1 → XP_047302787.1  uncharacterized protein C1orf127 isoform X3

    4. XM_047446829.1 → XP_047302785.1  uncharacterized protein C1orf127 isoform X2

      Related
      ENSP00000387816.2, ENST00000418570.6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      10485794..10523301 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334556.1 → XP_054190531.1  uncharacterized protein C1orf127 isoform X1

    2. XM_054334558.1 → XP_054190533.1  uncharacterized protein C1orf127 isoform X2

    3. XM_054334559.1 → XP_054190534.1  uncharacterized protein C1orf127 isoform X3

    4. XM_054334557.1 → XP_054190532.1  uncharacterized protein C1orf127 isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_173507.1: Suppressed sequence

      Description
      NM_173507.1: This RefSeq was permanently suppressed because the CDS was partial.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N9H9.2 GenPept UniProtKB/Swiss-Prot:Q8N9H9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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